PCYT1B-AS1 Gene

Name PCYT1B antisense RNA 1
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe neuromuscular junction (NMJ) is formed through a tightly regulated cascade of events, foremost among which is the activation of muscle‐specific receptor tyrosine kinase (MuSK). Central to this process is the cytoplasmic adaptor protein Dok-7, which, together with factors such as agrin and LRP4, orchestrates the clustering of acetylcholine receptors and the differentiation of the postsynaptic apparatus. Numerous studies have established that Dok-7 is indispensable for NMJ formation, as genetic ablation or mutation of Dok-7 results in severely disrupted synaptogenesis and congenital myasthenic syndromes (PMID."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its critical role in NMJ assembly, Dok-7 participates in complex downstream signaling pathways that involve post-translational modifications, protein–protein interactions, and feedback regulatory mechanisms. Detailed structural analyses and biochemical studies have revealed how Dok-7 not only binds to MuSK but also enhances its kinase activity by promoting dimerization and subsequent autophosphorylation. Furthermore, regulatory circuits including phosphorylation events mediated by kinases such as CK2 and interactions with additional adaptor molecules (e.g., Crk, Crk-L) are essential for both propagating and fine-tuning the agrin-Dok-7-MuSK signal, ensuring proper synaptic development and NMJ stability (PMID."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nTherapeutic interventions that target this signaling network have demonstrated that modulation of Dok-7 expression and activity can rescue NMJ deficits, as evidenced by improvements in synaptic architecture and muscle function in various animal models. Overexpression of Dok-7 and manipulation of transcriptional regulators such as Sp1 and PGC1α have been shown to enhance NMJ formation and maintenance, offering promising avenues for treating neuromuscular disorders. Despite the extensive exploration of these protein‐based regulatory mechanisms, none of the studies provided here mention or characterize any functional role for PCYT1B-AS1 in NMJ biology. This gap in the literature suggests that if PCYT1B-AS1—a long noncoding RNA—is involved in neuromuscular synaptogenesis or maintenance, its function remains to be elucidated by future research endeavors (PMID."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "16"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Kumiko Okada, Akane Inoue, Momoko Okada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The muscle protein Dok-7 is essential for neuromuscular synaptogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1127142"}], "href": "https://doi.org/10.1126/science.1127142"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16794080"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16794080"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Elisa Bergamin, Peter T Hallock, Steven J Burden, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2010.06.007"}], "href": "https://doi.org/10.1016/j.molcel.2010.06.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20603078"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20603078"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Peter T Hallock, Chong-Feng Xu, Tae-Ju Park, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.1977710"}], "href": "https://doi.org/10.1101/gad.1977710"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21041412"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21041412"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Johko Hamuro, Osamu Higuchi, Kumiko Okada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M708607200"}], "href": "https://doi.org/10.1074/jbc.M708607200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18165682"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18165682"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Julien Oury, Wei Zhang, Nadia Leloup, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41586-021-03672-3"}], "href": "https://doi.org/10.1038/s41586-021-03672-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34163073"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34163073"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Takahiro Eguchi, Tohru Tezuka, Sadanori Miyoshi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Postnatal knockdown of dok-7 gene expression in mice causes structural defects in neuromuscular synapses and myasthenic pathology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Cells (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/gtc.12370"}], "href": "https://doi.org/10.1111/gtc.12370"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27091576"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27091576"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Kevin A Kaifer, Eric Villalón, Caley E Smith, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AAV9-DOK7 gene therapy reduces disease severity in Smn"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "2B/-"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": " SMA model mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2020.07.031"}], "href": "https://doi.org/10.1016/j.bbrc.2020.07.031"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32828271"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32828271"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Dustin Herrmann, Marion Straubinger, Said Hashemolhosseini "}, {"type": "b", "children": [{"type": "t", "text": "Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M115.647610"}], "href": "https://doi.org/10.1074/jbc.M115.647610"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26198629"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26198629"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Richard G Webster, An E Vanhaesebrouck, Susan E Maxwell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddaa116"}], "href": "https://doi.org/10.1093/hmg/ddaa116"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32543656"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32543656"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Ryo Ueta, Tohru Tezuka, Yosuke Izawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The carboxyl-terminal region of Dok-7 plays a key, but not essential, role in activation of muscle-specific receptor kinase MuSK and neuromuscular synapse formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biochem (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jb/mvw073"}], "href": "https://doi.org/10.1093/jb/mvw073"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28069867"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28069867"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Takahiro Eguchi, Tohru Tezuka, Takayasu Fukudome, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Overexpression of Dok-7 in skeletal muscle enhances neuromuscular transmission with structural alterations of neuromuscular junctions: Implications in robustness of neuromuscular transmission."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2019.12.011"}], "href": "https://doi.org/10.1016/j.bbrc.2019.12.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31848047"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31848047"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Aizhong Chen, Lei Bai, Keke Zhong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "APC2"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "CDH1"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": " negatively regulates agrin signaling by promoting the ubiquitination and proteolytic degradation of DOK7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.202000485R"}], "href": "https://doi.org/10.1096/fj.202000485R"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32687671"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32687671"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Ethan D Kosco, Hongyang Jing, Peng Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DOK7 Promotes NMJ Regeneration After Nerve Injury."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Neurobiol (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12035-022-03143-4"}], "href": "https://doi.org/10.1007/s12035-022-03143-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36464749"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36464749"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Johko Hamuro, Yukihiro Hishida, Osamu Higuchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The transcription factor Sp1 plays a crucial role in dok-7 gene expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2011.04.020"}], "href": "https://doi.org/10.1016/j.bbrc.2011.04.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21504746"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21504746"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Beibei Wang, Yang Li, Ming Sui, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of the downstream molecules of agrin/Dok-7 signaling in muscle."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.201901693RR"}], "href": "https://doi.org/10.1096/fj.201901693RR"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32043676"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32043676"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Takumi Sugimoto, Chihiro Sakamaki, Tokushi Kimura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Peroxisome proliferator-activated receptor γ coactivator 1α regulates downstream of tyrosine kinase-7 (Dok-7) expression important for neuromuscular junction formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-024-52198-x"}], "href": "https://doi.org/10.1038/s41598-024-52198-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38245592"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38245592"}]}]}]}
NCBI Gene ID 100874088
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Predicted Functions View PCYT1B-AS1's ARCHS4 Predicted Functions.
Co-expressed Genes View PCYT1B-AS1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View PCYT1B-AS1's ARCHS4 Predicted Functions.

Functional Associations

PCYT1B-AS1 has 0 functional associations with biological entities spanning 0 categories () extracted from 0 datasets.

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Dataset Summary